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Genes                                                

Genes carry the information that determines which characteristics or features are passed on to you from your parents. These characteristics include eye color, blood type, and risks of getting certain diseases. Everyone inherits two sets of genes – one set of genes from your mother and one set of genes from your father, for a total of 20,000 and 25,000 genes. Most genes are the same in everyone, but less than 1% are slightly different between people. When there is a permanent change in the DNA sequence that makes up a gene, this is called a gene mutation. Only some gene mutations affect health and development.

Genetics

Genetics is the study of genes or parts of genes that have a known function. Genetics looks at how characteristics are passed on from one generation to the next, and it can help you and your family learn about how conditions such as breast cancer is inherited, what screening and testing options are available, and what treatments are available.

Genetic Testing

Genetic testing is a type of medical test that examines your DNA to reveal changes in your genes that may cause illness or disease such as breast cancer. There are over 1,000 genetic tests in use, and more are being developed. Genetic testing is voluntary, and the results are confidential, like the rest of your medical record. The cost of testing ranges from $300 to $5000 depending on the complexity of the test. In many cases, health insurance plans will cover the costs of genetic testing when it is recommended by your doctor. The Affordable Care Act requires insurance plans that began on or after August 1, 2012 to cover genetic testing costs when the test is recommended by a provider. Further, if you have a BRCA1/2 gene mutation, the Affordable Care Act requires coverage of counseling to help you decide if taking medications to lower breast cancer risk is right for you. Health insurance providers have different policies about which tests are covered, so be sure to contact your insurance company beforehand to ask about coverage. You may also choose to pay out-of-pocket for the test if you are worried that the results of a genetic test can affect your insurance coverage. In this case, find out more about your state’s privacy protection laws before asking your insurance company to cover the costs. 

Typically, to perform the genetic test, a sample of your blood, saliva or other tissue is sent to a testing facility. Within a few weeks, the results are generally ready and provided in writing to your doctor or genetic counselor, or sometimes directly to you. After you receive your results, it is important that you speak with the your genetic counselor or healthcare professional to interpret the results and discuss health management options.

The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain. Therefore, it is important for patients and their families to ask questions about the potential meaning of genetic test results both before and after the test is performed. When interpreting test results, healthcare professionals consider a person’s medical history, family history, and the type of genetic test that was done. There are three types of results:

• A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicate that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease (such as cancer) in the future, or suggest a need for further testing. Because family members have some genetic material in common, a positive test result may also have implications for certain blood relatives of the person undergoing testing. It is important to note that a positive result of a predictive or presymptomatic genetic test usually cannot establish the exact risk of developing a disorder. Also, health professionals typically cannot use a positive test result to predict the course or severity of a condition.
• A negative test result means that the laboratory did not find a change in the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have an increased risk of developing a certain disease. It is possible, however, that the test missed a disease-causing genetic alteration because many tests cannot detect all genetic changes that can cause a particular disorder. Further testing may be required to confirm a negative result.
• An uninformative, indeterminate, inconclusive, or ambiguous test result are as follows: uninformative test results sometimes occur because everyone has common, natural variations in their DNA that do not affect health. If a genetic test finds a change in DNA that has not been associated with a disorder in other people, it can be difficult to tell whether it is a natural variation or a disease-causing mutation. An uninformative result cannot confirm or rule out a specific diagnosis, and it cannot indicate whether a person has an increased risk of developing a disorder. In some cases, testing other affected and unaffected family members can help clarify this type of result.

Benefits of Genetic Testing

Genetic test results can provide a sense of relief from uncertainty and help you make informed decisions about managing your health care. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. A positive result can direct you toward available prevention, monitoring, and treatment options. Some test results can also help you make decisions about having children.

Potential Risks of Genetic Testing

The physical risks associated with most genetic tests are minimal, particularly if the test requires only a blood sample or cheek swab.

Emotional and social consequences of the test results are more common risks associated with genetic testing. When you receive your genetic test results and you are positive for a particular genetic mutation, you may feel angry, depressed, anxious, or guilty. These results may create a lot of emotions within a family because the results can reveal information about other family members in addition to the person who is tested. You may also worry that your genetic test results may cause you to experience genetic discrimination in employment or insurance.

Limitations of Genetic Testing

Generally, the genetic test cannot determine if you will show symptoms of a mutation, how severe the symptoms will be, or whether symptoms will progress over time. Another limitation of genetic testing is that there may not be a treatment strategy for that genetic disorder.

Genetic Discrimination

Fear of discrimination is a common concern among people considering genetic testing. Genetic discrimination is how you would describe being treated differently by your employer or insurance company because you have a gene mutation that causes or increases the risk of an inherited disorder. A federal law called the Genetic Information Nondiscrimination Act (GINA) is designed to protect people from this form of discrimination. GINA has two parts:

• Title I prohibits genetic discrimination in health insurance. This makes it illegal for health insurance providers to use or require genetic information to make decisions about your insurance eligibility or coverage. This part of the law went into effect on May 21, 2009.
• Title II prohibits genetic discrimination in employment. This makes it illegal for employers to use your genetic information when making decisions about hiring, promotion, and several other terms of employment. This part of the law went into effect on November 21, 2009.

GINA and other laws do not protect people from genetic discrimination in all circumstances. For example, GINA does not apply when an employer has fewer than 15 employees. It does not cover people in the U.S. military or those receiving health benefits through the Veterans Health Administration or Indian Health Service. GINA also does not protect against genetic discrimination in forms of insurance other than health insurance, such as life, disability, or long-term care insurance.

Hereditary Breast Cancer

Hereditary breast cancer is a type of breast cancer that may be caused by a change in certain genes that you inherited from your mother or father. These changes in the genes may prevent the genes from doing their job correctly. In turn, cells may divide and change more quickly, which can lead to cancer. Approximately 5%-10% of breast cancers are hereditary, which means that the cancer runs in the family.

Breast Cancers with BRCA Gene Mutations

The normal BReast CAncer (BRCA) genes, BRCA1 and BRCA2, help to repair damaged DNA so that cells can continue to grow and function normally. Changes in the BRCA1 and BRCA2 genes increase the risk of breast cancer, and common mutants include BRCA1 185delAG, BRCA1 5382insC and BRCA 617delT. Here is some additional information about breast cancer with BRCA1/2 gene mutation:

• Among Ashkenazi Jewish people, approximately 1 in 40 have BRCA1/2 gene mutation.
• Compared to breast cancers without a BRCA1 genemutation or BRCA2 genemutation, breast cancers that are associated with a BRCA1 gene mutation or BRCA2 genemutation tend to be more common in younger women and tend to occur in both breasts.
• BRCA1/2 gene mutation may increase the risk of a second primary breast cancer, which means a second breast tumor that is unrelated to the first tumor. The second tumor typically occurs in the opposite breast, not the same breast. Women with BRCA1/2 gene mutation have a 10-30% chance of developing breast cancer in the opposite breast 10 years after diagnosis of the breast cancer. By comparison, women without BRCA1/2 gene mutations have 5-10% of developing breast cancer in the opposite breast 10 years after diagnosis of the breast cancer.
• Mutations in BRCA1 gene and BRCA2 gene account for about 10% of all breast cancers, and this is considered to be rare. If you have a BRCA1 genemutation or BRCA2 gene mutation or both, you may have approximately 40%-70% chance of being diagnosed with breast cancer. Therefore, not every woman who has a BRCA1 or BRCA2 gene mutation will get breast cancer. About 50 out of 100 women with a BRCA1 or BRCA2 gene mutation will get breast cancer by the time they turn 70 years old, compared to only 7 out of 100 women in the general United States population. Looking at each gene separately, those with mutations in BRCA1 gene have 55-65% chance of developing breast cancer by age 70; those with mutations in BRCA2 gene have 45% chance of developing breast cancer by age 70.
• Mutations in BRCA1 gene and BRCA2 gene account for about 75-80% of hereditary l breast cancers.
• Women with BRCA1 gene mutation have an increased risk of developing triple negative breast cancer. This type of breast cancer is estrogen receptor-negative, progesterone receptor-negative and HER2-negative.
• Women with BRCA2 gene mutation are more likely to have estrogen receptor-positive breast cancer.

Genetic Testing for BRCA Gene Mutations:

To determine if genetic testing may be right be you, the best way to get started is to learn more about your family history on both your mother’s and your father’s side. An abnormal gene that increases breast cancer risk, such as BRCA1 or BRCA2 gene mutations, is more likely to run in your family if:

• Three or more women in your family have had breast and/or ovarian cancer, particularly if breast cancer is diagnosed at a younger age than this cancer typically develops (before age 50).
• A close relative has had cancer involving both breasts.
• There is both breast and ovarian cancer in your family.
• Men in your family have had breast cancer.
• There is breast cancer in your family and either male relatives on the same side of the family have had prostate cancer at a young age, or male or female relatives on the same side of the family have had other types of cancer, including but not limited to melanoma, pancreatic, stomach, uterine, thyroid, colon, and/or sarcoma.
• Your family is of Ashkenazi (Eastern European) Jewish descent.

To determine if you have BRCA gene mutations, your doctor or a genetic counselor may order testing for mutations in the genes individually or as part of a larger panel such as BRCA1, BRCA2, ATM, CDH1, CHEK2, PALB2, PTEN and TP53.

BRACAnalysis CDx^® as Genetic Test for BRCA Gene Mutations

Myriad’s BRACAnalysis CDx^® is a genetic test that is approved by the FDA for detecting mutations in the BRCA1 and BRCA2 genes, which in turn determines if you are eligible for treatment with Poly (ADP-ribose) polymerase (PARP) inhibitors. This test can only be ordered by a qualified healthcare professional such as your doctor. To perform the test, a small amount of blood is drawn from you. Results usually take less than two weeks and are sent to either the ordering healthcare provider or a designated “mail to” provider identified on the request form. The price of BRACAnalysis CDx testing is not made public. However, Myriad has published that the testing is covered by 97% of private insurance companies. Further, the average patient pays a coinsurance of less than $54, and 75% of patients pay $0.

If you are found to have an abnormal BRCA gene, you may proceed by testing the relative most closely related to you. If that next relative does not have it, you could not have passed it on to children. For example:

• If your mother’s sister has an abnormal BRCA gene, the next person to be tested would be your mother. If your mother’s test is negative (no gene abnormality present), then you do not need to be tested, because she could not have passed the mutation on to you. If your mother’s test is positive, you might then decide to be tested. If your mother is no longer living, then you might go ahead with testing on the basis of your aunt’s test result.
• If you test positive for an abnormal BRCA gene, the next people to be tested would be your siblings and/or your adult children. If any of them test positive, then they could have passed the mutation on to their own children. If they test negative, then they could not have passed on the mutation.

PARP Inhibitors

 PARP proteins normally help repair damaged DNA inside cells. PARP inhibitor drugs work by blocking the PARP proteins from working properly, which means that the cells are unable to repair damaged DNA. This in turn often leads to the death of the cancer cells. PARP inhibitors specifically target cancer cells, so that healthy cells are unaffected and the risk of difficult side-effects is reduced. PARP inhibitors were first developed as a cancer treatment following research done in 2015 by a group of scientists in London. They were the first group to show that cancer cells with BRCA1/BRAC2 gene mutations were very sensitive to treatment with this class of drugs.

PARP Inhibitors and Immunotherapy

Some tumors have defective DNA repair system, which turns on the body’s alarm to send in immune cells because these tumor cells are seen as “foreign”. To counteract this, some tumors avoid attack by the immune system by producing an increased amount of programmed cell death-1 with ligand (PD-L1), which is a molecule that disables the immune system’s ability to launch an attack against cancer. This way, the tumor cell is able to hide from the immune system, making immunotherapy ineffective at killing the cancer cells. An example of an immunotherapy drug is Tecentriq (atezolizumab), which is a PD-L1 inhibitor. In March 2019, it was approved by the FDA to be used in combination with chemotherapy for the treatment of triple-negative, metastatic breast cancer in patients whose tumors express the PD-L1 protein.

Researchers have observed that combined treatment with a PARP inhibitor and a PD-L1 inhibitor is more effective at killing cancer cells than treatment with only immunotherapy. One theory is that the PARP inhibitor makes the tumor cell unable to repair the damaged DNA, and when the tumor cell produces increased amount of PD-L1 to avoid being attacked by immune cells, the PD-L1 inhibitor is able to easily target the cancer cells, which leads to death of the cancer cells.

PARP Inhibitors as Treatment for Breast Cancer with BRCA Gene Mutations

Breast cancers with BRCA gene mutations can be treated with PARP inhibitors. PARP inhibitors work by blocking the PARP proteins, which normally help repair damaged DNA inside cells. Cancer cells with a mutated BRCA gene already have trouble repairing damaged DNA, and these tumor cells tend to have very active PARP. The higher level of PARP activity in tumor cells compared to healthy cells makes it easy for the PARP inhibitor to target the tumor cells. Blocking the PARP proteins often leads to the death of the cancer cells.

• Lynparza (olaparib) is a PARP inhibitor that is used to treat patients who have been previously treated with chemotherapy and have an inherited BRCA gene mutation and have HER2-negative metastatic breast cancer.
• Talzenna (talazoparib) is a PARP inhibitor that is used to treat patients who have an inherited BRCA gene mutation and have HER2-negative locally advanced or metastatic breast cancer.

Patient Support

• Education & Advocacy: Tigerlily Foundation provides education, advocacy, empowerment and support for young women under age 45, before, during and after breast cancer. See more information on our website (https://oldtlf.iedev.net) or call 888-580-6253.
• Financial Assistance: Myriad recognizes that you and your families use genetic test results to make lifesaving medical decisions. Therefore, they promise to provide affordable access to testing, a lifetime commitment to accurate results and comprehensive support for all appropriate patients and their families. If you encounter any financial hardship associated with your bill or insurance, Myriad will work directly with you to resolve the matter: 844-MYRIAD9 (844-697-4239) or billing@myriad.com.

For qualified underinsured patients in the U.S., Myriad offers financial assistance to reduce out-of-pocket costs depending on your household income level. Examples of patients who are considered underinsured include:

• Those with a high deductible or out-of-pocket expenses
• Those with a restrictive medical policy

To be eligible, patients must have private insurance, meet the medical criteria for testing (see the link below), and meet low-income requirements (household incomes up to 400% of the Federal poverty level).

For qualified patients in the U.S. who do not have medical health insurance, Myriad offers financial assistance to reduce out-of-pocket costs depending on your household income level. To be eligible, patients must meet the medical criteria for testing, and meet low-income requirements (household incomes up to 400% of the Federal poverty level). Due to regulatory limitations, patients who are recipients of government-funded programs (e.g., Medicaid, Medicare, Medicare-Advantage, and Tricare) are not eligible to apply for Myriad’s Financial Assistance Program.

• Genetic Counseling: Genetic counselors are specially trained health professionals who help families learn about and cope with genetic conditions. If you are considering testing, a genetic counselor would discuss risks, benefits, and limitations and provide balanced information for you to make an informed decision about whether to proceed with testing. There are many issues to consider including psychological impact, family issues, and privacy. Genetic counseling can be helpful in addressing these issues. Genetic counselors support families and individuals in making decisions about genetic testing and in adjusting to test results. For more information on genetic counseling, visit the National Cancer Institute’s website (https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet) or call 1-800-4-CANCER. To find a genetic counselor, you may visit the National Society of Genetic Counselor’s website (https://www.nsgc.org/).
• Support Groups: If you have BRCA1/2 gene mutations or other gene mutation that increase your risk for breast cancer, you may benefit from joining a support group. There are also support groups for people with BRCA1/2 gene mutations who do not have cancer, and support groups for people with BRCA1/2 gene mutations who have cancer.

Definition of Genomics:

Genomics is the study of all of your genes, including how the genes interact with each other and with your environment. With breast cancer, genomics can be used to increase our understanding of this complex disease. For example, the behavior of the breast tumor is affected by activity and interaction of genes in the tumor. Thus, how likely it is that the tumor grows and spreads, how aggressive the tumor is, or how likely it is that the tumor will respond to particular treatment are all dependent on genomics of the tumor.

Genomics versus Genetics:

Genomics and genetics both play a role in health and disease, and both deal with the approximately 20,000 genes in the human body. Genomics is the study of the genome, which is all of your genes. Genetics is the study of specific and limited number of genes or parts of genes that have a known function. Changes in a specific gene may increase your risk for breast cancer, such as BRCA1 gene mutations.

Therefore, while genomics and genetics are both focused on your genes, genomics is a study of all of the genes and genetics is the study of single genes. Another difference is that genetics looks at how characteristics such as eye color are passed on through DNA from one generation to another generation, while genomics is focused on identifying variations on the DNA that affect health, disease or drug response. The genetics field has been around since the 1860s whereas the genomics field is much newer, with the Human Genome Project being launched in 1990.

Definition of Personalized Medicine

Personalized medicine or precision medicine is treatment that is tailored to an individual patient, so that the patient is treated in the most effective manner. In order words, the treatment plan will target your specific breast cancer or the pathways that your tumor cells use to grow and survive. To accomplish this, the medical team considers the genes or other markers on the cancer cells, your genes, your lifestyle factors, and the molecular characteristics of your disease. Testing for personalized medicine may focus on:

• Drug-Gene Interactions: Since your genes may influence the way your body processes medications used to treat breast cancer, your doctor may use your genetic information to determine which medications and dosages are most appropriate for you. The field of drug-gene interactions is called pharmacogenomics.
• Tumor Sequencing: If your cancer continue to progress despite treatment, your doctor may recommend testing the genetic makeup of your cancer cells. This test, called tumor sequencing, is used to identify changes or alterations in the cancer so that your doctor can choose the best treatment for your specific type of tumor.
• Genetic Testing: Mutations in some genes are associated with an increased risk of developing breast cancer compared with the general population. One example is the BRCA genes. Since BRCA gene mutations are inherited, genetic testing for these types of inherited gene mutations is offered to people with a strong family history of the disease.

How is treatment personalized?

To personalize your treatment for breast cancer, several factors are taken into consideration:

• Size of the tumor – T0 means that no tumor can be found, Tis means carcinoma in situ, T1 means that the tumor is 2 cm or smaller, T2 means that the tumor is larger than 2cm but smaller than 5 cm, T3 means that the tumor is larger than 5cm, and T4 means that the tumor can be any size but has spread beyond the breast tissue.
• Type of tumor – the two breast cancer types are non-invasive and invasive. Ductal carcinoma in situ (DCIS) is a non-invasive type of breast cancer, which means that the tumor cells are contained within the milk ducts of the breast. Invasive breast cancer has spread beyond the breast, possibly to the lymph nodes and/or other parts of the body.
• Grade of the tumor – there are 3 grades. Grade 1 refers to well-differentiated cancer cells, which look slightly different from normal cells and grow in slow, well-organized patterns. Grade 2 refers to moderately differentiated cancer cells that do not look like normal cells and grow and divide faster than normal. Grade 3 refers to poorly differentiated cancer cells that look very different from normal cells and grow quickly in disorganized, irregular patterns.
• Hormone receptor status of the tumor – if the tumor is positive for hormone receptors such as estrogen receptor and progesterone receptor (ie., the tumor is estrogen receptor-positive and/or progesterone receptor-positive), hormone therapy might be suitable. On the other hand, if the tumor is negative for estrogen receptor and/or progesterone receptor, hormone therapy might not be suitable.
• HER2 receptor status of the tumor – if the tumor is positive for HER2 receptor (ie., the tumor is HER2-positive), anti-HER2 drugs may be suitable. On the other hand, if the tumor is HER2-negative, anti-HER2 drugs might not be suitable.
• Menopausal status – if you have not entered into menopause, you may be eligible to take tamoxifen, however if you are post-menopausal, you can take either tamoxifen or an aromatase inhibitor.
• Lifestyle factors – we are increasing our knowledge about this.
• Genes – we are also increasing our understanding on how your genes affect breast cancer, and to identify genes that might predict your response to a specific therapy. For example, PARP inhibitors can be more effective for treating metastatic breast cancer if the woman has a BRCA1 or BRCA2 gene mutation compared to women without these mutations.

Importance of personalized medicine for treating Breast Cancer

Breast cancer is a complex disease. It can develop, progress and respond to treatment very differently among patients. Personalized medicine for treating breast cancer provides the most effective treatment as it is tailored to an individual, based on their specific tumor characteristics. This way, the best results are achieved while avoiding unnecessary treatment, risks and side effects.

Factors that Can Increase Your Chances of Getting Breast Cancer

Factors and characteristics that increase your chances of getting breast cancer are called risk factors. The main risk factors of breast cancer are being a woman (breast cancer is rare in men) and getting older (breast cancer is generally found in women who are 50 years old or older), but younger women can and do g. It is important that you understand that having risk factors does not mean that you will get breast cancer. Also, it is important that you know that you may get breast cancer even without any risk factors that they know of. This is why you need to be your best advocate for your health and stay informed about what the risk factors of breast cancer are and how you can lower your risk. 

Genetic risk factors associated with Breast Cancer

About 5% -10% of breast cancer cases are associated with abnormalities in genes, which can be passed on from parent to child. Some examples of genes that may become abnormal and lead to breast cancer are:

• BRCA1 and BRCA2 genes: BRCA gene means BReast CAncer gene. The normal BRCA1 and BRCA2 genes help to repair damaged DNA so that cells can continue to grow and function normally. Mutations in BRCA1 and BRCA2 account for about 10% of all breast cancers, and this is considered to be rare. If you have a BRCA1 mutation or BRCA2 mutation or both, you may have approximately 40%-70% chance of being diagnosed with breast cancer. Compared to breast cancers without a BRCA1 mutation or BRCA2 mutation, breast cancers that are associated with a BRCA1 mutation or BRCA2 mutation tend to be more common in younger women and tend to occur in both breasts.
• ATM gene: The ATM gene normally helps cells repair damaged DNA. Though rare, mutations in the ATM gene have been linked to breast cancer.
• TP53 gene: The TP53 gene normally instructs cells how to make a protein called p53 that helps stop the growth of abnormal cells. Though rare, mutations of the TP53 gene lead to an increased risk of breast cancer.
• CHEK2 gene: The CHEK2 gene normally helps cells with DNA repair. A CHEK2 mutation can increase your breast cancer risk.
• PTEN gene: The PTEN gene normally helps cells grow properly. Though rare, mutations in the PTEN gene can increase your risk of developing breast cancer.
• CDH1 gene: The CDH1 gene makes a protein that helps cells bind together. Though rare, a woman with a mutated CDH1 gene has a 39% to 52% lifetime risk of developing breast cancer.
• STK11 gene: The SK11 gene normally helps cells grow properly. Though rare, mutations in the SK11 gene may lead to increased risk of developing breast cancer.
• PALB2 gene: The PALB2 gene normally makes a protein that interacts with the protein made by the BRCA2 gene to ensure that damaged DNA is repaired. Women with a PALB2 mutation may have a 33% to 53% lifetime risk of developing breast cancer.

Personal risk factors associated with Breast Cancer

• Gender: Women are at higher risk of being diagnosed with breast cancer than men. Approximately 12% of women get breast cancer and 0.1% of men get breast cancer.
• Aging: Your risk of developing breast cancer increases as you become older. For women who are diagnosed with breast cancer, 77% are over age 50 and 1% are in their 20s.
• Family history of breast cancer: Breast cancer risk is higher among women who have relatives with this disease. This includes your mother, sister, aunt and others.
• Personal history of breast cancer: If you have had cancer before, you have an increased risk of developing a new cancer in another part of the same breast or in the other breast.
• Race and Ethnicity: Breast cancer is more common in African-American women under 45 years of age. However, above 45 years old, white women are slightly more likely to develop breast cancer than African-American women.
• Dense Breast: With dense breasts, it is difficult to see abnormalities in the breast tissues. Thus, if you have dense breast and develop breast cancer, it may take longer to detect the breast cancer.
• Menstruation before age 12: If you start your period before age 12, your risk of breast cancer may be higher. This may be because you have been exposed to hormones for longer.
• Late or no pregnancy: If you have your first pregnancy after age 30 or if you have never had a full-term pregnancy, you may be at increased risk of developing breast cancer.
• Menopause after age 55: If you do not experience menopause until after age 55, you are exposed to hormones longer. This could increase your risk for breast cancer.
• Oral Contraceptives: Some forms of oral contraceptives (birth control pills) raise breast cancer risk.
• Combination Hormone Therapy: When estrogen and progestin are taken together for more than five years to replace missing estrogen and progesterone in menopause, your risk of breast cancer increases.
• Radiation Therapy: If you have had radiation therapy to the chest or breasts before age 30, you have a higher risk of developing breast cancer.
• Diethylstilbestrol (DES): Women who took DES while pregnant to prevent miscarriage have an increased risk for developing cancer.
• Lifestyle-related factors: Breast cancer risk can be higher if you are overweight or obese, if you are physically inactive, if you drink alcohol, and/or if you smoke.

High-risk individuals for Breast Cancer

Some women have a higher chance of being diagnosed with breast cancer. The factors that increase your chances of having breast cancer include having a personal history of breast cancer. If you have had cancer before, you have an increased risk of developing a new cancer in another part of the same breast or in the other breast. In addition, if you have relatives (e, g., your mother, sister, daughter) who have been diagnosed with breast cancer,  you have an increased risk of developing breast cancer. A history of breast cancer in your family may be linked to having an abnormal gene that is passed on over time. For example, mutations in genes such as BRAC1, BRAC2 and PTEN are linked to breast cancer, and these mutations can be passed on from parent to child.

Breast Cancer Screening

For women with a personal history of breast cancer, or a family history of breast cancer and/or a family history of abnormal breast-cancer related genes, you should speak with your health care provider to discuss breast cancer screening guidelines. The doctor will discuss which screening option may be right for you, whether you need to be screened earlier or more frequently than other women. Some screening options include:

1. Genetic Testing: There are genetic tests available to determine if you have mutations in genes that are associated with increased risk of developing breast cancer. Your doctor or a genetic counselor may order testing for mutations in the following genes individually or as part of a larger panel such as BRCA1, BRCA2, ATM, CDH1, CHEK2, PALB2, PTEN, TP53. Typically, to perform the genetic test, a sample of your blood or saliva is sent to a testing facility. The results are generally ready within two to four weeks. After you receive your results, it is important that speak with the your genetic counselor or healthcare professional to interpret the results and discuss health management options. The cost of testing ranges from $300 to $5000 depending on the complexity of the test. Some insurance covers the cost of genetic testing.
2. Screening Frequency: A screening plan for a woman at high risk of developing breast cancer may include:

• breast ultrasound
• monthly breast self-exam
• yearly breast exam by your doctor
• yearly mammogram starting at age 30 or younger
• yearly MRI scan every year starting at age 30 or younger

Women with an abnormal breast cancer gene have a much higher risk of developing breast cancer in between yearly screenings. For example, women with an abnormal BRCA1 or BRCA2 gene are recommended to have a mammogram and an MRI scan each year, about 6 months apart (for example, a mammogram in January and an MRI in July).

Profiling of Breast Tumor

Like every cell in your body, the cells in a breast tumor have genes that reveal the molecular characteristics of the tumor. This information helps to determine your prognosis and guides treatment decisions. A complete profiling of your breast cancer may include tumor size tumor type, tumor grade, the hormone status of your tumor, the HER2 receptor status of the tumor, and gene mutations.

Determining Hormone Status:

Estrogen and progesterone are a type of protein called hormones that give “fuel” to breast tumor growth. Breast cancers that have high levels of estrogen are called estrogen receptor-positive (ER-positive or ER+). Similarly, breast cancers that have high levels of progesterone are called progesterone receptor-positive (PR-positive or PR+). If the breast cancer has both hormone receptors, it is called ER/PR-positive or ER+/PR+). Your medical team can determine your hormone status as follows:

• Immunohistochemistry (IHC) test detects the presence of estrogen and progesterone receptors in the cancer cells. This test is done on a biopsy of your tumor.

Determining HER2 Status:

Human epidermal growth factor receptor 2 (HER2) is a type of protein that is on breast cells. Normally, HER2 receptors help control how breast cell grows, divides, and repairs itself. But in about 25% of breast cancers, the HER2 gene doesn’t work correctly and makes too many copies of itself (known as HER2 gene amplification). This in turn leads to overproduction of the HER2 receptors, which makes breast cells grow and divide in an uncontrolled way. Breast cancers that have high levels of HER2 receptors are HER2-positive. Your medical team can determine your hormone status as follows:

• Immunohistochemistry (IHC) test detects the number of HER2 protein receptors in the cancer cells. The results of the IHC test can be: 0 (negative), 1+ (also negative), 2+ (borderline), or 3+ (positive, HER2 protein overexpression).
• Fluorescence in situ hybridization (FISH) test detects the number of HER2 genes in the cancer cells. The results of the FISH test can be positive (HER2 gene amplification) or negative (no HER2 gene amplification).
• SPoT-Light HER2 CISH test (Subtraction Probe Technology Chromogenic In Situ Hybridization) finds out if there are too many copies of the HER2 gene in the cancer cells. The results of the SPoT-Light test can be positive (HER2 gene amplification) or negative (no HER2 gene amplification).
• Inform HER2 Dual ISH (Inform Dual In Situ Hybridization) test finds out if there are too many copies of the HER2 gene in the cancer cells. The results of the Inform HER2 Dual ISH test can be positive (HER2 gene amplification) or negative (no HER2 gene amplification).

Determining Genetic Makeup: The genes in breast tumor cells reveal the molecular characteristics of the tumor. This information helps to determine your prognosis and guides treatment decisions. Your medical team can determine the genetic makeup of your tumor using these four tests as follows:

• BRACAnalysis CDx test identifies mutations in the BRCA1 gene or BRCA2 gene.
• Breast Cancer Index test examines a group of 11 genes in the tumor cells. It is used to determine treatment decisions for breast cancers that are ER-positive, HER2-negative, and lymph node-negative.

• Oncotype DX^® test is used to determine the benefit of using chemotherapy in addition to hormone therapy to treat estrogen receptor positive (ER-positive) breast cancers. Oncotype DX is the most commonly used tumor profiling test in the U.S. and it is the only tests that is used in breast cancer staging. Along with other factors, the results of the Oncotype DX test help predict the chance of metastasis for early breast cancers that are ER-positive, HER2 negative, and lymph node negative. Oncotype DX may also be used for some postmenopausal women with invasive breast cancers that are ER-positive, HER2-negative and lymph node-negative when chemotherapy is being considered. If Oncotype DX testing is right for you, your oncologist will review your test results with you and discuss how the Oncotype DX score may guide your treatment plan. Additional details about Oncotype DX are below:
  • Tumor testing: Oncotype DX tests a sample of the tumor (removed during a biopsy or surgery) for the activity of a group of 21 genes.
  • Tumor staging: Oncotype DX is part of breast cancer staging for some estrogen receptor-positive, lymph node-negative tumors.
  • Oncotype DX scores: If your Oncotype DX score is high, this means that you have a fairly high risk of metastasis. Your doctor may recommend a more aggressive treatment plan that includes both hormone therapy and chemotherapy. If your Oncotype DX score is low, this means that you have a low risk of metastasis. Your doctor may recommend the use of hormone therapy alone.
  • Study results: The National Cancer Institute is using OncotypeDX in a clinical trial called TAILORx to study recently diagnosed patients with hormone receptor-positive, HER2-negative breast cancer that has not spread to the lymph nodes. Recent findings from the TAILORx study show, for some women over 50 with an Oncotype DX score showing an intermediate risk of metastasis, treatment with hormone therapy alone may be as effective as treatment with hormone therapy and chemotherapy. For some women 50 and younger with an Oncotype DX score showing an intermediate risk of metastasis, TAILORx showed there may be a benefit of including both hormone therapy and chemotherapy in the treatment plan. The Oncotype DX test can also be used for invasive breast cancer has been modified to help predict the chance that ductal carcinoma in situ (DCIS) will return as DCIS or invasive breast cancer by testing a sample of the DCIS tumor for the activity of the group of genes in the test. This test may help identify which cases of DCIS would benefit most from radiation therapy after lumpectomy (and which women might be treated with lumpectomy alone). This test needs further study and is not yet part of standard practice.

• MammaPrint test is used to determine the benefit of using chemotherapy in addition to hormone therapy to treat estrogen receptor positive (ER-positive) breast cancers. It is typically used in breast cancers that have all four of these characteristics: stage I or II, ER-positive, HER2-negative and lymph node-negative or lymph node-positive with 1-3 positive nodes.

o   Tumor testing: MammaPrint tests a sample of the tumor (removed during a biopsy or surgery) for the activity of a group of 70 genes.

o   MammaPrint scores: If the score indicates a fairly high risk of metastasis, your doctor will likely recommend a more aggressive treatment plan that includes both hormone therapy and chemotherapy. If the score indicates a low risk of metastasis, your doctor may recommend treatment with only hormone treatment.

• PAM50 (Prosigna^®) test, Prediction Analysis of Microarray 50, is used to determine the benefit of using chemotherapy in addition to hormone therapy for some estrogen receptor-positive and HER2-negative breast cancers. Along with other factors, the results of the PAM50 (Prosigna) test help predict the chance of metastasis (when cancer spreads to other organs) and determine the molecular subtype of breast cancer. PAM50 helps predict the chance of metastasis for postmenopausal women with breast cancers that are all of the following: Stage I or II, ER-positive, HER2-negative and lymph node-negative.
• Tumor profiling: PAM50 tests a sample of the tumor (removed during a biopsy or surgery) for activity of a group of 50 genes.
• PAM50 scores: If the PAM50 test shows the breast cancer has a fairly high risk of metastasis (the PAM50 score is high), a more aggressive treatment, your doctor may recommend both hormone therapy and chemotherapy. If the test shows a low risk of metastasis (the PAM50 score is low), the use of hormone therapy alone may be considered. In this way, PAM50 may help some people avoid chemotherapy and its side effects.
• Recent findings: Some findings show PAM50 may help identify which ER-positive breast cancers may benefit from hormone therapy beyond 5 years. However, PAM50 is not recommended for use in guiding extended hormone therapy use at this time.

Targeted drug therapies for Breast Cancer

Targeted therapy drugs for breast cancer are designed to attack certain cancer cells or certain cellular pathways that cancer cells use to grow and survive. There are several targeted therapies for breast cancer, based on whether they are hormone receptor-positive or HER2-positive. Targeted therapies are also developed for treatment of breast cancer at early stage and at metastatic stage.

About HER2-positive breast cancers. A number of treatments have been developed to target HER2-positive breast cancers. These include:

• Trastuzumab (Herceptin):  It may be used alone, but it may also be given along with chemo. Trastuzumab can be used to treat both early- and late-stage breast cancer. For early breast cancer, this drug is usually given for a total of 6 months to a year. For advanced breast cancer, treatment is often given for as long as the drug is helpful.
• Pertuzumab (Perjeta): This drug can be given with trastuzumab and chemo, either before surgery to treat early-stage breast cancer, or to treat advanced breast cancer.
• Ado-trastuzumab emtansine (Kadcyla, also known as TDM-1): This drug is used by itself to treat advanced breast cancer in women who have already been treated with trastuzumab and chemo.
• Lapatinib (Tykerb):  Lapatinib is used to treat advanced breast cancer, and might be used along with certain chemotherapy drugs, trastuzumab, or hormone therapy drugs.
• Neratinib (Nerlynx):  Neratinib is used to treat early-stage breast cancer after a woman has completed one year of trastuzumab and is usually given for one year. Some clinical trials show that it may also be effective in advanced breast cancer, as well.

About Hormone receptor-positive breast cancers. Treatments that target hormone receptor-positive breast cancers include Everolimus (Afinitor) and CDK4/6 inhibitors.

• Everolimus (Afinitor) has been approved for women who have advanced hormone receptor-positive, HER2-negative breast cancer and have gone through menopause. Everolimus is used along with the aromatase inhibitor exemestane (Aromasin) for women whose cancers have grown while being treated with either letrozole or anastrozole (or if the cancer started growing shortly after treatment with these drugs was stopped).
• CDK4/6 inhibitors are drugs that block proteins in the cell called cyclin-dependent kinases (CDKs), particularly CDK4 and CDK6. Blocking these proteins in hormone receptor-positive breast cancer cells helps stop the cells from dividing. This can slow cancer growth. These drugs are approved for women with advanced hormone receptor-positive, HER2-negative breast cancer. Some examples include: CDK4/6 inhibitors that Palbociclib (Ibrance),ribociclib (Kisqali), and abemaciclib (Verzenio). Additional details about these drugs are as follows:
• Palbociclib or abemaciclib can be given with fulvestrant to women who are premenopausal (still having regular periods) or are almost in menopause (perimenopausal). These women, however, must also be on medications, such as luteinizing hormone-releasing (LHRH) analogs that stop the ovaries from making estrogen.
• Ribociclib can be given with an aromatase inhibitor (such as letrozole) to women who have not gone through menopause. As with palbociclib or abemaciclib, these women must also be using medicines that suppress the ovaries.
• Abemaciclib can be used by itself in women who have previously been treated with hormone therapy and chemotherapy.

About Breast cancers with BRCA gene mutations. Treatments that target breast cancers with BRCA gene mutations are PARP inhibitors. PARP proteins normally help repair damaged DNA inside cells. The BRCA genes (BRCA1 and BRCA2) also help repair DNA (in a slightly different way), but mutations in one of those genes can stop this from happening. PARP inhibitors work by blocking the PARP proteins. Because tumor cells with a mutated BRCA gene already have trouble repairing damaged DNA, blocking the PARP proteins often leads to the death of these cells.

• Olaparib (Lynparza) and talazoparib (Talzenna) can be used to treat metastatic, HER2-negative breast cancer in women with a BRCAmutation who have already gotten chemotherapy.  Olaparib can also be used in women who have already received hormone therapy if the cancer is hormone receptor-positive.

The Oncotype Dx Test

The Oncotype DX Test is a genomic test that evaluates specific genes in your breast tumor to provide information that your doctor can use to develop a personalized treatment plan for you. If you have early-stage invasive breast cancer, Oncotype DX test predicts the likelihood that you may benefit from chemotherapy, and the likelihood of your cancer returning. If you have ductal carcinoma in situ (DCIS), the Oncotype DX test predicts the likelihood of your cancer returning in the same breast. The Oncotype DX test is a product of Genomic Health.

Is Oncotype DX for you?

You may be a candidate for the Oncotype DX test if:

• you have recently been diagnosed with stage I breast cancer or stage II invasive breast cancer
• the cancer is estrogen-receptor-positive
• there is no cancer in your lymph nodes (lymph-node-negative breast cancer)
• you and your doctor are making decisions about chemotherapy 

Questions to Ask Your Doctor About Oncotype DX

The Oncotype DX test must be ordered by your doctor or a licensed healthcare provider. You and your doctor will decide if the Oncotype DX test is right for you. Some questions that you may want to ask your doctor include:

• What stage is my breast cancer?
• What are the chances of my cancer coming back after surgery?
• Is my breast cancer hormone receptor-positive (ER+ or PR+)?
• What are my treatment options? What do you suggest for me and why?
• What are the benefits of each treatment option? What are the drawbacks/side effects of each one?
• How long do side effects of each treatment option last? Do side effects go away once treatment is complete?
• Is it OK to wait a few weeks to consider my treatment plan options before I have to make a decision about treatment?
• Am I a candidate for the Oncotype DX test?
• If I am a candidate for the Oncotype DX test, how could we use the test results to develop my treatment plan?
• How can I get a copy of my pathology report and my Oncotype DX test results (if I’m eligible for the test)?

Take the Oncotype DX Eligibility Quiz

1. Are you a newly diagnosed breast cancer patient or caregiver trying to determine what treatment plan is right for you or a loved one?
2. What stage is your breast cancer?

• Stage 0 DCIS (non-invasive breast cancer).
• Stage I.
• Stage II.
• Stage IIIa.
• Stage IIIb or above.
• I am not sure.

3. Has your breast cancer been diagnosed as estrogen receptor positive (ER+)?

• I am not sure.

4. Does your breast cancer have lymph node involvement?

• One to three lymph nodes are positive.
• More than 3 lymph nodes are positive.
• I am not sure.

Additional Resources:

• OncotypeDx Guides

Genomic Health has several free guides for Oncotype DX. For DCIS Breast Cancer, see Doctor Discussion Guide for DCIS Breast Cancer, DCIS Breast Cancer Patient Guide, and Patient Guide to DCIS Surgery. For Invasive Breast Cancer, see Doctor Discussion Guide for Invasive Breast Cancer, Invasive Breast Cancer Patient Guide, Patient Guide to Early-Stage Invasive Breast Cancer Surgery and Treatment and Invasive Breast Cancer Patient Guide (Spanish). For general knowledge, see Recently Diagnosed – Inform Yourself.

• Mobile Breast Cancer Apps

Mobile Breast Cancer Apps are convenient tools for guiding breast cancer patients, survivors and caregivers. Some examples are:

1. My Cancer Coach: Includes calendar, note-taking, audio-recording. It has a list of questions to ask your doctor. My Cancer Coach is available for iPhone and Android.
2. NCCN Reimbursement Resource: Provides access to payment assistance and reimbursement programs for covering cancer-related charges. NCCN Reimbursement is available for iPhone and Android.
3. Caring Bridge: Connects you with the support of family and friends. Caring Coach is available for iPhone and Android.
4. Pills on the Go: Provides reminder to take your medications. Pills on the Go is available for Android.
5. CareZone: Helps to manage daily appointments, medications, school practices and contacts. CareZone is available for iPhone and Android.
6. Breast Check Reminder: Provides reminder to perform monthly breast self-exam. Breast Check is available for iPhone and Android.
7. Breast Self-Exam: Helps you track changes that you detect when you are conducting your monthly breast self-exam. Breast Check is available for Android.
8. Breast Cancer Ribbons: Provides a variety of positive wallpapers and messages to help you stay strong and inspired during your breast cancer journey. Breast Cancer Ribbon is available for iPhone.

• Links and Video Resources

Genomic Health has a library of videos and websites that provide additional information about breast cancer and treatments. This library also provides guidance for personalizing your breast cancer treatment with Oncotype DX. There are videos about DCIS Breast Cancer, Invasive Breast Cancer and Oncotype DX score, results. There are links to Advocacy, Education and Support, Clinical Trials, Answers from Breast Cancer Experts, Advanced Breast Cancer Information and Breast Cancer Blogs.

Glossary

Biomarker: A biomarker or molecular marker is a biological molecule found in blood, other body fluids or tissues.

Biopsy: Biopsy is the examination of tissue removed from a living body. For example, a biopsy of breast cancer is taken to examine the characteristics of the tumor.

Clinical trial: A clinical trial is a type of medical research study that determines whether an intervention – a new drug, medical device or diagnostic tool – is safe and/or effective.

Companion Diagnostic: A companion diagnostic is a test or measurement that can be used to determine the efficacy and/or safety of a specific drug for a targeted patient group or patient sub-groups.

DNA: Deoxyribonucleic acid or DNA is a cellular component that contains the instructions for most forms of life.

Epigenomics: Epigenomics takes into account how factors, such as the environment, can result in changes in gene expression.

Gene Mutation: This is permanent change in the DNA sequence that makes up a gene. Gene mutations may be inherited from a parent or acquired during a person’s lifetime.

Gene testing: Genetic testing is performed with a laboratory test to identify genetic changes associated with a disease.

Genetic Counseling: A healthcare professional with specialized knowledge of genetics meets with an individual or family to determine if a condition in the family is genetic and estimate the chances that another relative may be affected. Genetic counseling may also involve performing and interpreting genetic tests that estimate disease risk, as well as conveying information so as to help address concerns of the individual or family and provide psychological counseling to help them adapt to the condition or risk.

Genetic Marker: A genetic marker is an alternation in DNA that may indicate an increased risk of developing breast cancer.

Genome: The genome is the complete genetic material of an organism.

Genomic Sequencing: Genomic Sequencing is a method to determine the entire genetic makeup of a single cell or of an entire organism. This method can help determine changes in DNA that may lead to the development of breast cancer.

Genomics: Genomics is the study of the genome – structure, function, evolution and mapping.

GINA: The Genetic Information Nondiscrimination Act or GINA is a federal legislation that prohibits discrimination against individuals on the basis of their genetic profiles in regard to health insurance and employment. The law was passed in 2008.

Personalized medicine: This refers to treatment that is tailored to an individual patient, so that the patient is treated in the most effective manner. Diagnostic tools are used to identify specific biological markers to help determine which medical treatments and procedures will be best for the patient.

Pharmacogenomics: Pharmacogenomics is the field that examines how your genes influence the way your body processes medications used to treat breast cancer.

Proteomics: Proteomics is the analysis of protein structure and function.

Risk factors: A risk factor is a characteristic or exposure of an individual that increases their likelihood of developing breast cancer.

Targeted therapy: Targeted therapy is drugs for breast cancer that are designed to attack certain cancer cells or certain cellular pathways that cancer cells use to grow and survive.

Tumor sequencing: Doctors can sequence the DNA from your cancer cells to identify which mutations are responsible for causing breast cancer.

Your Healthcare Provider and You

Having the right healthcare provider and a strong relationship with that individual is one of the most important relationships you’ll make during your lifetime.  Selecting a healthcare provider in your teens when you begin your annual visits and building a connection of open communication and trust, can be the foundation for how you build your healthcare team – whether you’re healthy or have been diagnosed with breast cancer.  The right doctor will listen to you, teach you how to be your best advocate, and advocate for you, if and when needed. The right provider also will have a network of other specialists he/she trusts, if you need specialized care.

• Selecting: When choosing a doctor, such as a general practitioner, OB/GYN, surgeon, radiation oncologist or a medical oncologist, you may combine information from the sources mentioned below to help you make an informed decision. A good starting point is directories from hospitals and health insurance plans. These directories often list doctors by medical specialty and gender, and may include personal biographies details such as education, training, certification and personal interests. To find the best doctor for you, you may also consider referrals from a trusted source such as your primary care provider, family members, friends or other breast cancer survivors. A good provider is board certified, which means that the doctor has the training and knowledge to practice a medical specialty and have passed a certification exam. The American Board of Medical Specialties (ABMS) oversees the certification of specialists and has an online directory. In addition to being board certified, a doctor’s malpractice records a good indication of the quality of care that they provide. In general, little or no malpractice payouts are a good indication that they offer the best quality care possible. However, doctors may be sued for malpractice when, in fact, they did nothing wrong. State medical boards often have malpractice records available to the public.

Your doctor should be someone you feel comfortable with on a personal level and someone who you can talk to openly. A doctor should be open to you getting more than one or two opinions before selecting the one that is best for you.   This is a good way to learn about their abilities and to see whether or not you have a personal connection with the healthcare provider. Here are some questions that may help you interview a doctor:

• How long have you been practicing?
• Are you open to questions or other opinions?
• Are you comfortable with me sharing my opinion and having a conversation about what we both think is right for me?
• Do you only see people diagnosed with breast cancer?
• How many people with breast cancer do you see (or operate on) in a year?
• What breast cancer treatment guidelines do you follow?
• What is your area(s) of special interest or research?
• Which hospitals are you affiliated with?
• Are you board-certified in the area of specialization?
• Have you completed any fellowships completed in cancer care (surgery, radiation therapy, medical oncology)?
• Building and Sustaining the Relationship: Finding a doctor with whom you feel comfortable and can talk openly is one of the best ways to feel good about your breast cancer treatment decisions. During your initial visits with your doctor, it may be a good idea to bring a friend or loved one with you who can help ask questions and discuss the answers later as you may feel overwhelmed by all of the new information.

After additional visits with your doctor, you should continue to feel even more comfortable talking with your doctor. Whether you continue to go alone or with someone, it is always a good idea to prepare a list of questions ahead of time for your doctor. This can help you remember everything you want to ask and keep the discussion focused on the issues that are most important to you. In keeping abreast of new and available treatment, be sure to ask your doctor whether they take part in clinical trials. A doctor who participates in clinical trials is likely to know about new therapies and may be more open to future medical treatments, which could make a big difference in managing your breast cancer.

In general, the best relationship you can have with your doctor is one where you are open and do not feel shy about speaking frankly. Be sure to update your doctor about how you are feeling and about your full family history of breast and other cancers. This information helps your doctor understand your risk of breast cancer and your risk of breast cancer returning.

• Talking with your Provider: An open line of communication between you and your doctor can make a big difference in both quality of life and a sense of empowerment over the care received. Being your own advocate will help you better understand your treatment. It will also help you be actively involved in your care. Keeping the lines of communication open reduces the chances for misunderstandings between you and your doctor. Here are a few tips:
• Ask questions. Ask questions about anything that you do not understand, and do not be afraid to ask the question again if you don’t understand the answer.
• Take notes. Make notes about what you discuss so that you can refer to them as needed.
• Ask for what you need. It is almost always better to ask a question as soon as you think about it rather than put it off for a later date.
• Speak up if you feel there may be a misunderstanding.Most misunderstandings are much easier to resolve right away. If you find it difficult to speak up, ask a friend to speak for you. Do not let miscommunication linger and become an even greater issue.
• Be patient.During your appointments, bring something to read or keep you busy while you are in the waiting room. This will make the time flow more easily and reduce your irritation. Having a physician who is there for you when you need it and who takes the time to answer all of your questions means that they are likely to get backed up at times.

To clarify details about coordinating your care generally or in an emergency, here are some questions to ask your doctor:

• Who should I call if I have any symptoms on weekends or after hours?
• If I need emergency care, where should an ambulance take me?
• What symptoms might suggest an emergency?
• What types of emergencies may occur with cancer like mine?
• Who should I call if I have any side effects?
• Who is ultimately in charge of my care?
• When should I call the clinical trial investigator and when should I call another member of my healthcare team?

Basically, you should feel as if your physician is competent, professional and that he/she really cares about you.  Start building this relationship as a healthy young woman; and know that it will benefit you throughout your life journey.

Having Breast Cancer and Managing Mental Health:  It is important to be cognizant of mental health after diagnosis and during treatment.  While it is important to try to stay positive, sometimes the “over-pinking” of breast cancer or the fact that everyone is cheering you on towards health and may be solely focused on keeping you positive can tend to negate feelings that some wome have – feelings of sadness.  It is important to recognize that each woman’s journey is different and that being diagnosed with breast cancer can affect your mental health and that of your loved ones. From anxiety and worry about the future, to the stress of treatment, and fear of recurrence, many breast cancer patients and survivors develop anxiety or depression; and symptoms of post-traumatic stress disorder (PTSD).  These symptoms can be short- or long-term.  Some women can begin to see the impact on their mental health at the onset of their breast cancer diagnosis. Other women may have pre-existing mental health conditions, which can make it harder for them to cope after a breast cancer diagnosis. Some women who undergo surgery for their breast cancer can experience depression and sadness as a result of substantial change in appearance through mastectomy. Mastectomies can decrease women’s body confidence, impact their relationships to their sexuality, and have a negative effect on overall mental health. In addition, weight loss or weight gain as a result of breast cancer treatment can also alter how a woman feels about herself, which could impact mental health as well. Also, women who are metastatic can have more acute anxiety and/or depression.

Managing mental health can make it challenging to do things that benefit your health, such as eating healthy foods, exercising, connecting with friends and family, and complying with medical treatment. However, the good news is that breast cancer and its emotional impact such as feelings of depression can lift over time, and the level of anxiety is likely to decrease.  However, it is important to note that if you feel anxious or depressed, ask your healthcare team for a referral to a mental health provider.  Taking care of your mental health should be a priority.

Staying as active as you can and focusing on healthy, eating including lots of fruits and vegetables can help you feel better and more relaxed. Also, reaching out to supportive intimate partners and family members, friends, or a faith-based group can increase breast cancer survivors’ overall mental well-being. Talk to a therapist, who can listen objectively and help you cope. In addition, you may consider a combination of group therapy, which allows women to share emotional support, and individual therapy, which helps women learn problem-solving skills and alter patterns of thinking. You should always communicate your moods and emotions with your doctor and healthcare team as they can connect you with the appropriate help. If all else fails, your doctor may recommend taking anti-depressant medications. There are a variety of effective medications available that you might be prescribed to address any underlying chemical components of your anxiety or depression.